ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1462G>A (p.Asp488Asn)

gnomAD frequency: 0.00006  dbSNP: rs370362655
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001212959 SCV001384571 uncertain significance Hermansky-Pudlak syndrome 2 2022-01-20 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 942880). This variant has not been reported in the literature in individuals affected with AP3B1-related conditions. This variant is present in population databases (rs370362655, gnomAD 0.01%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 488 of the AP3B1 protein (p.Asp488Asn).
Ambry Genetics RCV004649494 SCV005142244 uncertain significance Inborn genetic diseases 2024-03-15 criteria provided, single submitter clinical testing The c.1462G>A (p.D488N) alteration is located in exon 14 (coding exon 14) of the AP3B1 gene. This alteration results from a G to A substitution at nucleotide position 1462, causing the aspartic acid (D) at amino acid position 488 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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